Canonical Allele Identifier: CA10632255

Gene: PUS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131932294C>A , CM000674.2:g.131932294C>A	GRCh38
NC_000012.11:g.132416839C>A , CM000674.1:g.132416839C>A	GRCh37
NC_000012.10:g.130982792C>A	NCBI36
NG_013039.1:g.8095C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025215.6:c.423C>A MANE Select	NP_079491.2:p.Arg141=
ENST00000376649.8:c.423C>A MANE Select	ENSP00000365837.3:p.Arg141=
NM_001002019.2:c.339C>A	NP_001002019.1:p.Arg113=
NM_001002019.3:c.339C>A	NP_001002019.1:p.Arg113=
NM_001002020.2:c.339C>A	NP_001002020.1:p.Arg113=
NM_001002020.3:c.339C>A	NP_001002020.1:p.Arg113=
NM_025215.5:c.423C>A	NP_079491.2:p.Arg141=
ENST00000322060.9:c.339C>A	ENSP00000324726.5:p.Arg113=
ENST00000376649.7:c.423C>A	ENSP00000365837.3:p.Arg141=
ENST00000443358.6:c.339C>A	ENSP00000392451.2:p.Arg113=
ENST00000456665.6:c.339C>A	ENSP00000409705.2:p.Arg113=
ENST00000535067.5:c.339C>A	ENSP00000443969.1:p.Arg113=
ENST00000537484.1:c.339C>A	ENSP00000440179.1:p.Arg113=
ENST00000538037.5:c.339C>A	ENSP00000440326.2:p.Arg113=
ENST00000542167.2:c.264C>A	ENSP00000438948.1:p.Arg88=
ENST00000544213.5:c.423C>A	ENSP00000445819.1:p.Arg141=
ENST00000544662.1:n.450C>A
XM_011538768.1:c.24C>A	XP_011537070.1:p.Arg8=
XM_011538768.3:c.24C>A	XP_011537070.1:p.Arg8=
XM_011538769.1:c.423C>A	XP_011537071.1:p.Arg141=
XM_011538769.2:c.423C>A	XP_011537071.1:p.Arg141=
XR_001748872.1:n.878C>A
XR_944737.1:n.878C>A